Canonical Allele Identifier: CA1393780
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 506273
ClinVar RCV Id: RCV000605356 RCV000710334 RCV001057761 RCV001271137 RCV003471974
dbSNP Id: rs777465132
ExAC: 1:215932085 G / T
gnomAD v2: 1-215932085-G-T
gnomAD v3: 1-215758743-G-T
gnomAD v4: 1-215758743-G-T
MyVariant Identifiers: chr1:g.215932085G>T (hg19) chr1:g.215758743G>T (hg38)
ERepo: CA1393780/MONDO:0019501/005
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215758743G>T , CM000663.2:g.215758743G>T GRCh38
NC_000001.10:g.215932085G>T , CM000663.1:g.215932085G>T GRCh37
NC_000001.9:g.213998708G>T NCBI36
NG_009497.1:g.669654C>A
NG_009497.2:g.669706C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11241C>A MANE Select ENSP00000305941.3:p.Tyr3747Ter
ENST00000674083.1:c.11241C>A ENSP00000501296.1:p.Tyr3747Ter
ENST00000307340.7:c.11241C>A ENSP00000305941.3:p.Tyr3747Ter
NM_206933.2:c.11241C>A NP_996816.2:p.Tyr3747Ter
NM_206933.3:c.11241C>A NP_996816.2:p.Tyr3747Ter
NM_206933.4:c.11241C>A MANE Select NP_996816.3:p.Tyr3747Ter
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